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NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) AND not provided

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Apr 11, 2024
Review status:
no classifications from unflagged records
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000595470.5

Allele description [Variation Report for NM_017882.3(CLN6):c.307C>T (p.Arg103Trp)]

NM_017882.3(CLN6):c.307C>T (p.Arg103Trp)

Gene:
CLN6:CLN6 transmembrane ER protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp)
HGVS:
  • NC_000015.10:g.68211854G>A
  • NG_008764.2:g.50358C>T
  • NM_017882.3:c.307C>TMANE SELECT
  • NP_060352.1:p.Arg103Trp
  • LRG_832t1:c.307C>T
  • LRG_832:g.50358C>T
  • LRG_832p1:p.Arg103Trp
  • NC_000015.9:g.68504192G>A
  • NM_017882.2:c.307C>T
Protein change:
R103W
Links:
dbSNP: rs201095412
NCBI 1000 Genomes Browser:
rs201095412
Molecular consequence:
  • NM_017882.3:c.307C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000703152.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000703152Eurofins Ntd Llc (ga)
flagged submission
Reason: Older claim that does not account for recent evidence
Notes: None

(EGL Classification Definitions 2015)		Uncertain significance
(Dec 2, 2016) 		germlineclinical testing

Citation Link

Last Updated: Sep 29, 2024